2010
DOI: 10.1186/1471-2350-11-15
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Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits

Abstract: BackgroundConserved non-coding regions (CNR) have been shown to harbor gene expression regulatory elements. Genetic variations in these regions may potentially contribute to complex disease susceptibility.MethodsWe targeted CNRs of cardiovascular disease (CVD) candidate gene, Na(+)-Ca(2+) exchanger (NCX1) with polymorphism screening among CVD patients (n = 46) using DHPLC technology. The flanking region (348 bp) of the 14 bp indel in intron 2 was further genotyped by DGGE assay in two Eastern-European CVD samp… Show more

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Cited by 11 publications
(4 citation statements)
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“…The smaller block (chr2:40000000–40700000) included the protein-coding gene SLC8A1 and the lncRNA gene SLC8A1-AS1. SLC8A1 (solute carrier family 8 member A1) is a protein-coding gene linked to multiple diseases, such as long Qt syndrome 9, cardiac diseases and aromatase deficiency [ 56 58 ]. We found that this small block was active in IMR90 but not in K562 by several signals.…”
Section: Resultsmentioning
confidence: 99%
“…The smaller block (chr2:40000000–40700000) included the protein-coding gene SLC8A1 and the lncRNA gene SLC8A1-AS1. SLC8A1 (solute carrier family 8 member A1) is a protein-coding gene linked to multiple diseases, such as long Qt syndrome 9, cardiac diseases and aromatase deficiency [ 56 58 ]. We found that this small block was active in IMR90 but not in K562 by several signals.…”
Section: Resultsmentioning
confidence: 99%
“…(25,26) Furthermore, Na + /Ca 2+ exchanger is a major calcium transporter in the kidney. (24-26) Na + /Ca 2+ exchange disturbance originating from SLC8A1 genetic polymorphisms is a potential mechanism driving the development of cardiovascular disease (32)(33)(34)(35)) and Alzheimer's disease. (36) Studies have also indicated that mutations at specific sites within the trans-membrane segment of SLC8A1 gene influence Ca 2+ transportation.…”
Section: Discussionmentioning
confidence: 99%
“…25,26 Furthermore, Na + /Ca 2+ exchanger is a major calcium transporter in the kidney. [24][25][26] Na + /Ca 2+ exchange disturbance originating from SLC8A1 genetic polymorphisms is a potential mechanism driving the development of cardiovascular disease [32][33][34][35] and Alzheimer's disease. 36 Studies have also indicated that mutations at specific sites within the transmembrane segment of SLC8A1 gene influence Ca 2+ transportation.…”
Section: Zhao Et Almentioning
confidence: 99%